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Gene : MTMR2 Homo sapiens

Name  ? myotubularin related protein 2 Cytological Location  11q21
Brief Description  myotubularin related protein 2
description  This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
  • synonyms:
  • U58033,
  • MTMR2,
  • phosphoinositide-3-phosphatase,
  • HGNC:7450,
  • CMT4B,
  • OTTHUMG00000153837,
  • uc001pfu.4,
  • NM_016156,
  • phosphatidylinositol-3-phosphatase,
  • CMT4B1,
  • CMT4B,
  • KIAA1073
  • identifiers:
  • 8898,
  • ENSG00000087053,
  • MTMR2

Genome feature

Region: gene ? Length: 91328  
Location: 11:95832880-95924207 reverse strand Cyto location: 11q21


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

2011 SN Ps

5 Cross References

20 Data Sets

19 Homologues

0 Located Features

90 Rna Seq Results